Test 2 memorisation Flashcards
RET
Receptor for Neurotrophic factors
a pt mutation of which is associated w/multiple endocrine neoplasia 2A and B, familial medullary thyroid carcinomas
KIT
Receptor for KIT ligand
a pt mutation of which is associated w/GI stromal tumors, seminomas, leukemias
KRAS
a GTP-binding protein
a pt mutation of which is associated with colon, lung, pancreatic tumors
JAK2
JAK/STAT signal transduction
a translocation that is associated with myeloproliferative disorders
acute lymphoblastic leukemia
MYC/NMYC
transcriptional activators, in which
a translocation is associated with Burkitt lymphoma
a amplification is associated with neuroblastoma
CDK4
Cyclin-dependent kinase
an amplification/point mutation is associated with glioblastoma, melanoma, sarcoma
APC
tumor suppressor gene
makes adenomatous polyposis coli protein
inhibits WNT signaling
associated with familial colonic polyps and carcinomas, carcinomas of stomach, colon, pancreas; melanoma
NF1
tumor suppressor gene
makes neurofibromin-1
inhibits RAS/MAPK signaling
associated with neurofibromatosis type 1 and neuroblastoma, juvenile myeloid leukemia
RB
tumor suppressor gene
makes retinoblastoma protein
inihibits G1/S transition during cell cycle progression
associated with familial retinoblastoma syndrome, retinoblastoma; osteosarcoma carcinomas of breast, colon, lung
TP53
makes p53 protein
arrests cell cycle and commences apoptosis in response to DNA damage
associated with Li-Fraumeni syndrome + most human cancers
Mesothelioma
malignant mesothelium tumor
Seminoma
malignant testicular epithelium (germ cells) tumor
Hamartomas
Disorganized by benign masses
Choristoma
Heterotopic rest of cells, somewhere where it’s not supposed to be
PDGFB
Overexpression will lead to astrocytoma